IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: VAN DER WOUDE SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553248641
rs1553248641
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		A 0.700 GeneticVariation CLINVAR Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 27834299 2017
dbSNP: rs1553248641
rs1553248641
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		A 0.700 GeneticVariation CLINVAR Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? 19449419 2009
dbSNP: rs1553248641
rs1553248641
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		A 0.700 GeneticVariation CLINVAR Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 15472655 2004
dbSNP: rs1553248641
rs1553248641
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		A 0.700 CausalMutation CLINVAR